Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: Relation to biological and clinical phenotypes of junctional epidermolysis bullosa

American Journal of Human Genetics

Volumn 60, Issue 6, 1997, Pages 1344-1353

  Schumann, Hauke ^a,b   Hammami Hauasli, Nadja ^a   Pulkkinen, Leena ^b   Mauviel, Alain ^b   Küster, Wolfgang ^c   Lüthi, Ursula ^d   Owaribe, Katsushi ^e   Uitto, Jouni ^b   Bruckner Tuderman, Leena ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e NAGOYA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COLLAGEN DEFECT; EPIDERMOLYSIS BULLOSA; FEMALE; GENETIC POLYMORPHISM; GENODERMATOSIS; HEMIDESMOSOME; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NORTHERN BLOTTING; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SKIN ATROPHY;

EID: 0030910826     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515463     Document Type: Article

References (34)

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